Canonical Allele Identifier: CA3538839

Gene: IL12B

Linked Data

• ClinVar Variation Id: 2985293
• ClinVar RCV Id: RCV003848420
• dbSNP Id: rs781641564
• ExAC: 5:158750050 G / A
• gnomAD v2: 5-158750050-G-A
• gnomAD v3: 5-159323042-G-A
• gnomAD v4: 5-159323042-G-A
• MyVariant Identifiers: chr5:g.158750050G>A (hg19) ; chr5:g.159323042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323042G>A , CM000667.2:g.159323042G>A	GRCh38
NC_000005.9:g.158750050G>A , CM000667.1:g.158750050G>A	GRCh37
NC_000005.8:g.158682628G>A	NCBI36
NG_009618.1:g.12432C>T , LRG_71:g.12432C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.-148-2522C>T	ENSP00000512849.1:n.-148-2522C>T
ENST00000696751.1:c.364+12C>T	ENSP00000512850.1:n.364+12C>T
ENST00000231228.3:c.364+12C>T MANE Select	ENSP00000231228.2:n.364+12C>T
ENST00000231228.2:c.364+12C>T	ENSP00000231228.2:n.364+12C>T
NM_002187.2:c.364+12C>T , LRG_71t1:c.364+12C>T	NP_002178.2:n.364+12C>T
XR_001742945.1:n.147+2446G>A
NM_002187.3:c.364+12C>T MANE Select	NP_002178.2:n.364+12C>T